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8449 DHX16

8449

DHX16

DEAH-box helicase 16

protein-coding

Homo sapiens

基因描述

Type Description
Definition DEAH-box helicase 16

研究结论

Date Results Publications
2020-03-21 10:31:00 Missense mutation in DHX16 gene is associated with neurodevelopmental disorder. 31256877
2015-08-29 10:21:00 Data show that G patch domain and KOW motifs protein (GPKOW )interacted directly with the DEAH-box protein 16 (DHX16/hPRP2) and with RNA. 25296192
2011-02-26 10:49:00 Results suggest that mutant DHX16/hPRP2 causes a defective spliceosome to retain unspliced gene transcripts in the nuclei. 20841358
2010-07-05 11:42:00 DHX16 is required for human pre-mRNA splicing after the formation of a pre-catalytic spliceosome. 20423332
2010-06-30 22:05:00 Observational study of gene-disease association. (HuGE Navigator) 20453000

名称对应

Type IDs
Synonymous DBP2, DDX16, PRO2014, PRP8, PRPF2, Prp2
Gene
UniProtKB-ID: DHX16_HUMAN, A0A1U9X7L7_HUMAN, Q5SQH4_HUMAN, B4DZ28_HUMAN
UniprotKB: O60231, A0A1U9X7L7, Q5SQH4, B4DZ28
UniParc: UPI000000D73D, UPI0000EE4DDC, UPI00017A8402
EMBL: AB011149, BC008825, BA000025, AK312264, AB202095, KY500297, BC009392, AK302721, AB088098, CH471081, AL845353, AB103604, AB001601
Ensembl: ENSG00000231377, ENSG00000226171, ENSG00000233561, ENSG00000204560, ENSG00000233049, ENSG00000206486, ENSG00000233418
KO: hsa:8449
Nucleutide sequences
EMBL-CDS: BAB63323.1, AAH09392.1, BAA25503.2, BAA25908.1, AAH08825.1, EAX03313.1, AQY76785.2, BAC54930.1, BAG35195.1, BAF31265.1, EAX03316.1, BAE78615.1, BAG63940.1
Gene_ORFName: hCG_26008, hCG_26008
Ensembl_TRS: ENST00000417308, ENST00000383577, ENST00000424672, ENST00000421095, ENST00000376442, ENST00000458094, ENST00000451456
Protein sequencees
Ensembl_PRO: ENSP00000389862, ENSP00000365625, ENSP00000373071, ENSP00000396193, ENSP00000390938, ENSP00000393958, ENSP00000408956
RefSeq: XP_011513240.1, XP_011513241.1, XP_011513243.1, NP_003578.2, NP_001157711.1, NP_001350444.1
Others
UniRef100: UniRef100_B4DZ28, UniRef100_O60231, UniRef100_A0A1U9X7L7
UniRef90: UniRef90_O60231, UniRef90_A0A2K5CV16
UniRef50: UniRef50_O60231
UniGene: Hs.485060
CCDS: CCDS4685.1

全选

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